CYP19A1 Gene Aromatase Deficiency NGS Genetic DNA Test
Understanding Aromatase Deficiency and Genetic Testing
Aromatase deficiency represents a rare genetic disorder that significantly impacts reproductive health and development. The CYP19A1 gene encodes the aromatase enzyme, which plays a crucial role in converting androgens into estrogens. When mutations occur in this gene, the body’s ability to produce adequate estrogen levels becomes compromised, leading to a cascade of reproductive and developmental challenges.
What Does This Test Measure?
The CYP19A1 Gene Aromatase Deficiency NGS Genetic DNA Test employs advanced Next-Generation Sequencing technology to comprehensively analyze the CYP19A1 gene for pathogenic variants. This sophisticated testing approach detects:
- Point mutations affecting aromatase enzyme function
- Insertions and deletions disrupting gene expression
- Splice site mutations impacting protein synthesis
- Regulatory region variants affecting gene activity
Who Should Consider This Genetic Test?
This specialized genetic test is particularly recommended for individuals presenting with:
- Delayed Puberty: Adolescents experiencing significantly delayed sexual development
- Ambiguous Genitalia: Newborns or children with unclear sexual characteristics
- Primary Amenorrhea: Women who have never experienced menstrual periods
- Infertility Issues: Couples facing unexplained fertility challenges
- Family History: Individuals with relatives diagnosed with aromatase deficiency
- Hormonal Imbalances: Patients with unexplained estrogen deficiency symptoms
Clinical Benefits of Genetic Testing
Undergoing the CYP19A1 Gene Aromatase Deficiency test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out genetic aromatase deficiency
- Personalized Treatment: Enables targeted hormone replacement therapy
- Reproductive Planning: Informs family planning decisions and fertility options
- Early Intervention: Facilitates timely management of developmental issues
- Genetic Counseling: Provides essential information for family risk assessment
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical professionals:
- Positive Result: Indicates the presence of pathogenic CYP19A1 gene mutations, confirming aromatase deficiency diagnosis
- Negative Result: Suggests no detectable mutations in the analyzed gene regions
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We proudly offer comprehensive genetic testing services across the United States, with conveniently located testing centers in major metropolitan areas including New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Reproductive Health
Don’t let uncertainty about your genetic health impact your reproductive future. The CYP19A1 Gene Aromatase Deficiency NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized healthcare planning. Our experienced genetic counselors are available to discuss your results and guide you through next steps.
Ready to schedule your genetic test? Contact our dedicated healthcare team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and optimizing your reproductive wellness.
